Canonical Allele Identifier: CA2648155894

Gene: IL6R

Linked Data

• gnomAD v4: 1-154448144-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448147_154448148del , CM000663.2:g.154448147_154448148del	GRCh38
NC_000001.10:g.154420623_154420624del , CM000663.1:g.154420623_154420624del	GRCh37
NC_000001.9:g.152687247_152687248del	NCBI36
NG_012087.1:g.47955_47956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.972_973del MANE Select	ENSP00000357470.3:p.Asn325ArgfsTer12
ENST00000344086.8:c.972_973del	ENSP00000340589.4:p.Asn325ArgfsTer12
ENST00000368485.7:c.972_973del	ENSP00000357470.3:p.Asn325ArgfsTer12
ENST00000476006.5:c.788_789del
ENST00000507256.1:n.170_171del
ENST00000515190.1:c.380_381del
NM_000565.3:c.972_973del	NP_000556.1:p.Asn325ArgfsTer12
NM_181359.2:c.972_973del	NP_852004.1:p.Asn325ArgfsTer12
XM_005245139.1:c.830_831del	XP_005245196.1:p.Arg277AsnfsTer?
XM_005245140.1:c.830_831del	XP_005245197.1:p.Arg277AsnfsTer?
XM_006711298.1:c.1020_1021del	XP_006711361.1:p.Asn341ArgfsTer12
XM_006711299.2:c.1020_1021del	XP_006711362.1:p.Asn341ArgfsTer12
XM_005245139.2:c.830_831del	XP_005245196.1:p.Arg277AsnfsTer?
XM_005245140.3:c.830_831del	XP_005245197.1:p.Arg277AsnfsTer?
XM_006711298.2:c.1020_1021del	XP_006711361.1:p.Asn341ArgfsTer12
XM_006711299.4:c.1020_1021del	XP_006711362.1:p.Asn341ArgfsTer12
XM_017001199.2:c.1020_1021del	XP_016856688.1:p.Asn341ArgfsTer12
XM_017001200.2:c.972_973del	XP_016856689.1:p.Asn325ArgfsTer12
XM_017001201.2:c.830_831del	XP_016856690.1:p.Arg277AsnfsTer?
NM_000565.4:c.972_973del MANE Select	NP_000556.1:p.Asn325ArgfsTer12
NM_181359.3:c.972_973del	NP_852004.1:p.Asn325ArgfsTer12
NM_001382769.1:c.972_973del	NP_001369698.1:p.Asn325ArgfsTer12
NM_001382770.1:c.1065_1066del	NP_001369699.1:p.Asn356ArgfsTer12
NM_001382771.1:c.1020_1021del	NP_001369700.1:p.Asn341ArgfsTer12
NM_001382772.1:c.966_967del	NP_001369701.1:p.Asn323ArgfsTer12
NM_001382773.1:c.1020_1021del	NP_001369702.1:p.Asn341ArgfsTer12
NM_001382774.1:c.612_613del	NP_001369703.1:p.Asn205ArgfsTer12